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Gene: Neb MGI:97292

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nebulin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Neb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Neb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Muscle weakness, Type 1 muscle fiber predominance, Ptosis OMIM:616304
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Progressive ... OMIM:620285
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... OMIM:619042
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Myasthenic Syndrome, Congenital, 13
Proximal muscle weakness, Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Ptosis OMIM:614750
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Neck flexor weakness, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... OMIM:616209
Oculopharyngeal Muscular Dystrophy 1
Distal muscle weakness, Facial palsy, Proximal muscle weakness, Progressive ptosis, Neck muscle w... OMIM:164300
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Short stature, Neck flexor weakness, Ragged-red muscle f... ORPHA:457050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... OMIM:620249
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
Mitochondrial Myopathy With Diabetes
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... OMIM:500002
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Myasthenic Syndrome, Congenital, 18
Ataxia, Knee flexion contracture, Fatigable weakness, Difficulty walking, Ptosis OMIM:616330
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Proximal muscle... OMIM:611588
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Multiple joint contractures, Difficulty walking, Ptosis OMIM:616227
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Oculopharyngodistal Myopathy
Loss of ambulation, Foot dorsiflexor weakness, Progressive ptosis, Distal lower limb amyotrophy, ... ORPHA:98897
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers... OMIM:610687
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... OMIM:616228
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies OMIM:609273
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Progressive proxima... ORPHA:2596
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f... ORPHA:598
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short stature, Ataxia, Centrally nucleated skeletal muscle fibers, Kypho... OMIM:248800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract... OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy... OMIM:607684
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... ORPHA:254875
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... ORPHA:169186
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... OMIM:255200
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature, Proximal muscle weakness, Ptosis OMIM:615120
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu... ORPHA:353327
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... OMIM:609285
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... OMIM:608627
Myopathy, Centronuclear, 4
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... OMIM:616924
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... OMIM:603511
Myopathy, Distal, 3
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... OMIM:610099
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 f... OMIM:300580
Myasthenic Syndrome, Congenital, 10
Waddling gait, Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Proxi... OMIM:254300
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... OMIM:609284
Myasthenic Syndrome, Congenital, 23, Presynaptic
Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness,... OMIM:618197
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz... OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Scapular winging, Bulbar palsy, Broad-based gait, Spinal muscular... OMIM:615290
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... OMIM:617087
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... OMIM:619473
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog... ORPHA:641
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle weakness, P... OMIM:617404
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Distal upper limb musc... OMIM:605285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenital fibrosis of extraocular ... OMIM:609384
Congenital Myopathy 3 With Rigid Spine
Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... OMIM:602771
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... OMIM:600175
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Dna2-Related Mitochondrial Dna Deletion Syndrome
Progressive external ophthalmoplegia, Multiple joint contractures, Hyperlordosis, Limb-girdle mus... ORPHA:352470
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... OMIM:620389
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Muscle weakness OMIM:545000
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Pure Mitochondrial Myopathy
Waddling gait, Progressive external ophthalmoplegia, Scapular winging, Lumbar hyperlordosis, Neck... ORPHA:254854
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Fatty replacement of skeletal muscle, Gowers sign, Growth delay, Proximal muscle w... ORPHA:171706
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe... OMIM:600462
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... ORPHA:98905
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... ORPHA:353
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... ORPHA:263494
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Hyperlordosis, Gowers sign, Ophthalmoparesis, Myopathy, Sho... OMIM:615156
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... ORPHA:34515
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... ORPHA:75840
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... OMIM:614399
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Ptosis, Gait disturbance, Leg muscle stiffness OMIM:108600
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... OMIM:613818
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Quadriceps muscle weakness, I... ORPHA:206546
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets OMIM:619065
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Congenital diaphragmati... OMIM:615919
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Weakness of f... OMIM:618637
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Spinal rigidity, Respiratory insufficiency due to muscle weaknes... ORPHA:171439
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Typical Nemaline Myopathy
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... ORPHA:171436
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Bilatera... OMIM:616479
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... OMIM:616668
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... OMIM:615348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... OMIM:618323
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, External ophthalmoplegia, Bilateral ptosis, Fatigable weakness, Gait disturbance, ... OMIM:614198
Hereditary Continuous Muscle Fiber Activity
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Fatigable weakness, Neck... OMIM:616325
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscle weakness, Ptosis OMIM:258470
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Upper limb muscle weakness, Dis... OMIM:605588
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... OMIM:617336
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Fatigable weakness of skeletal muscles, Ophthalmoplegia, Neck muscle weakness, Weakness of facial... OMIM:616324
Arts Syndrome
Growth delay, Progressive muscle weakness, Ataxia OMIM:301835
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Ptosis ORPHA:1875
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Generalized muscle weakness, Falls, Arthrogryposis multiplex congenita, Ptosis OMIM:616326
Central Core Disease
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... ORPHA:597
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... OMIM:161800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... OMIM:611890
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Generalized muscle weakness OMIM:614096
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, S... ORPHA:101075
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Short stature, Ataxia, Kyphosis, Ophthalmoplegia, Unsteady gait, Scoliosi... OMIM:618124
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Bilateral ptosis, Vira... ORPHA:329314
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
King-Denborough Syndrome
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally nucleated skeletal mus... OMIM:619542
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Respiratory ... ORPHA:329336
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... OMIM:606070
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal muscle fibers, Scapulope... OMIM:255160
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis OMIM:615159
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Poor head control, Generalized muscle weakness, Ptosis OMIM:616321
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness OMIM:300076
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... OMIM:226670
Infantile Refsum Disease
Progressive muscle weakness, Short stature, Facial palsy, Ataxia ORPHA:772
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ophthalmoplegia, Fatigable weakness, Neck muscle weakness, Muscle weakness, Ptosis OMIM:616322
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... ORPHA:681
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control OMIM:613752
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Truncal ataxia, Myopathy, Limb-girdle muscular dystrophy, D... ORPHA:369847
Cdkl5-Deficiency Disorder
Poor head control, Kyphosis, Synophrys, Growth delay, Gait disturbance, Scoliosis, Difficulty wal... ORPHA:505652
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, Axial muscle we... ORPHA:178148
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Ptosis ORPHA:2997
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness, Type ... OMIM:618276
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... OMIM:620011
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis DECIPHER:70
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ataxia, Increased variability in muscle fiber diameter, Gait disturbance OMIM:125250
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98853
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Poor head control, Inter... ORPHA:324604
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... OMIM:609560
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis, Muscle weakness ORPHA:99014
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
External ophthalmoplegia, Congenital ptosis, Fatigable weakness, Proximal muscle weakness OMIM:254190
Proximal Myopathy With Extrapyramidal Signs
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased ... ORPHA:401768
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Inability... OMIM:616756
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Short stature, Interphalangeal joint contracture of finger, Knee flexion contracture, Intrauterin... OMIM:606242
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G... ORPHA:57
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... OMIM:617143
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral ptosis, Inability to walk, Scoliosis, Downslanted palpebral fissures, Hypomimic... OMIM:619701
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:620086
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Synophrys, Ragged-red muscle fibers, Axial muscle weakness, Gene... OMIM:620351
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... OMIM:615352
Fazio-Londe Disease
Facial diplegia, Bulbar palsy, Diaphragmatic weakness, Ptosis OMIM:211500
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... OMIM:602541
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia ORPHA:480
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Myopathy, Ragged-red muscle fibers OMIM:618242
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Myasthenic Syndrome, Congenital, 22
Waddling gait, Short stature, Proximal muscle weakness, Muscle weakness, Ptosis OMIM:616224
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Gowers sign, Achil... OMIM:617258
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Arthrogryposis, Distal, Type 2B3
Short stature, Scoliosis, Camptodactyly, Downslanted palpebral fissures, Ptosis OMIM:618436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... OMIM:610131
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Loss of ambulation, Decreased leve... OMIM:607426
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Muscle weakness ORPHA:85317
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness OMIM:618416
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventr... OMIM:252011
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... OMIM:254090
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Short stature ORPHA:85288
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis ORPHA:2598
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Ophthalmoparesis, Lower limb hypertonia, Ptosis OMIM:610246
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, Dysmetria, Long e... ORPHA:48431
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cong... OMIM:618578
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... OMIM:258450
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Abnormal eyelid morphology, Limb ataxia, Generalized amyotrophy, Difficulty walki... ORPHA:251282
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal a... OMIM:617519
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Growth delay, General... OMIM:613561
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Ptosis ORPHA:3454
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Inability to walk, Bilateral ptosis, Scoliosis, Difficulty walking, Dela... ORPHA:330050
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Kyphosis, Progressive ... OMIM:615512
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... ORPHA:600
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Short stature, Ataxia, Facial myokymia OMIM:620007
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Short stature, Kyphosis, Narrow palpebral fissure, Scoliosis, Delayed puberty, Blepharoph... OMIM:301900
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Whistling Face Syndrome, Recessive Form
Epicanthus, Telecanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... OMIM:277720
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Distal muscle weakness, Short stature, Proximal muscle weakness, Fatty replacement of skeletal mu... ORPHA:52430
Intellectual Developmental Disorder, Autosomal Dominant 26
Ptosis, Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Kyphosis, Upslanted palp... OMIM:615834
Arthrogryposis, Distal, Type 7
Arthrogryposis multiplex congenita, Distal arthrogryposis, Short stature, Ptosis OMIM:158300
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal ... ORPHA:254886
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat... OMIM:271630
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Short stature, Ataxia, Progressive proximal muscle weakness, Myopathy, Shoulder girdle... ORPHA:98907
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Epicanthus, Short stature, Scoliosis OMIM:300434
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beak... OMIM:230650
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... OMIM:615084
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Ataxia, Hypomimic face, Dysdiadochokinesis, Shuffling gait, Ptosis OMIM:618049
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Musc... OMIM:613662
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Epicanthus, Diastasis recti, Short neck, Progressive muscle weakness, Sy... ORPHA:488632
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Progressive external ophthalmoplegia, Broad-based gait, Neck flexor weakness, Ataxia, Proximal mu... OMIM:618098
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Scoliosis, Ptosis OMIM:610743
Dk1-Cdg
Progressive muscle weakness, Short stature ORPHA:91131
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Multiple joint contractures, Short stature, Dysmetr... ORPHA:363429
Fatty Acyl-Coa Reductase 1 Deficiency
Short stature, Highly arched eyebrow, Inability to walk, Growth delay, Ptosis ORPHA:438178
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Postnatal growth retardation, Limb-girdle muscle weakness... ORPHA:79240
Neutral Lipid Storage Myopathy
Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske... ORPHA:98908
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Epicanthus, Short stature, Upslanted palpebral fissure, Blepharophimosis... OMIM:162100
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Masa Syndrome
Kyphosis, Short stature, Shuffling gait, Hyperlordosis OMIM:303350
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Proximal muscle weakness, Increased intramyocellular lipid droplets, Decreased level of c... OMIM:612016
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis ORPHA:324262
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Short stature, Highly arched eyebrow, Ophthalmoplegia, EMG: myopathic abnormalities, Downslanted ... ORPHA:457365
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Aplasia of the left hemidiaphragm, Scoliosis, Intrauterine growth retardation, P... OMIM:618238
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Ptosis, Poor head control, Facial palsy... ORPHA:98915
Wernicke-Korsakoff Syndrome
Ophthalmoplegia, Ataxia, Ptosis OMIM:277730
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Inability to w... ORPHA:3101
Sandhoff Disease
Kyphosis, Ataxia, Muscle weakness ORPHA:796
Microcephaly 16, Primary, Autosomal Recessive
Ptosis, Telecanthus, Short stature, Knee flexion contracture OMIM:616681
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ophthalmoplegia, Ophthalmoparesis, Oculomotor nerve palsy, Ptosis ORPHA:2743
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... ORPHA:98914
Mcdonough Syndrome
Short stature, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scolios... ORPHA:2471
Benign Samaritan Congenital Myopathy
Lethargy, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Synophrys, Gait disturbance, Scoliosis, Thick eyebrow ORPHA:2429
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator... ORPHA:352447
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Poor head control, Ankle flexion contracture, Flexion contract... OMIM:617468
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... ORPHA:2220
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Lower limb hypertonia, Type 1 musc... ORPHA:319514
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
Combined Oxidative Phosphorylation Deficiency 20
Progressive external ophthalmoplegia, Ataxia, Left ventricular noncompaction, Muscle weakness, Pt... OMIM:615917
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Neonatal death, Arthrogryposis mult... OMIM:618393
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Respiratory ins... ORPHA:365
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Increased variability in muscle fiber diameter, External ophthalmoplegia, Flexion c... OMIM:619026
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Wrist flexion... OMIM:255800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Downslanted palpebral fissures, Kyphosis, Short stature, Scoliosis ORPHA:276630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized limb muscle atrophy, Musc... OMIM:615351
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Short stature, Highly arched eyebrow, Kyphosis, Bilateral ptosis, Upslanted palpebral... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, External ophthalmoplegia, Growth delay, Choreoathetosis, Lumbar kyphoscoliosis, Muscle we... OMIM:619422
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Increased intramyocellu... OMIM:614487
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3... OMIM:616549
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Short stature, Inability to walk, Dysmetria, Gait ataxia, Dysdiadochokinesis, Ptosis OMIM:614831
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Short stature OMIM:618392
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscolios... OMIM:114300
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Proximal Xq28 Duplication Syndrome
Epicanthus, Short stature, Gait disturbance, Blepharophimosis, Ptosis ORPHA:1762
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... ORPHA:169189
Cornelia De Lange Syndrome 2
Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Synophrys, Long e... OMIM:300590
Glycogen Storage Disease Xv
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance OMIM:613507
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Spinocerebellar Ataxia With Epilepsy
Dysmetria, Gait ataxia, Ophthalmoparesis, Myopathy, Progressive cerebellar ataxia, Dysdiadochokin... ORPHA:254881
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Epicanthus, Short stature, Kyphosis, Ophthalmoplegia, Distal arthrogryposi... OMIM:108145
Adult Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis ORPHA:178487
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Bruck Syndrome 1
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... OMIM:259450
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Spastic gait, Scoliosis, Upper limb dysmetria, Limb muscle weakness, Lower limb muscle ... OMIM:614409
Hemifacial Atrophy, Progressive
Blepharophimosis, Kyphosis, Ataxia, Horner syndrome OMIM:141300
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... ORPHA:99013
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Distal muscle weakness, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdiad... ORPHA:313772
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis OMIM:300861
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Bulbar palsy, Ataxia, Inability to walk, Ophthalmopl... ORPHA:254930
Zimmermann-Laband Syndrome 2
Short stature, Short neck, Kyphosis, Synophrys, Macroglossia, Long eyelashes, Thick eyebrow OMIM:616455
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Ptosis OMIM:605407
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... OMIM:619574
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers OMIM:540000
Spinocerebellar Ataxia Type 28
Gait ataxia, Ophthalmoparesis, Limb ataxia, Ptosis ORPHA:101109
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal ... ORPHA:464282
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Short stature, Scoliosis, Delayed puberty, Ptosis ORPHA:1825
Sialidosis Type 2
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Flexion contracture, Muscle weakness ORPHA:87876
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia OMIM:614898
Fibrosis Of Extraocular Muscles, Congenital, 1
Superior rectus atrophy, Levator palpebrae superioris atrophy, Bilateral ptosis, Restrictive exte... OMIM:135700
Trisomy 5P
Short stature, Scoliosis, Ptosis ORPHA:1742
Coffin-Siris Syndrome 8
Thick eyebrow, Long eyelashes, Scoliosis, Ptosis OMIM:618362
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis, Difficu... OMIM:617675
Zimmermann-Laband Syndrome 3
Kyphosis, Synophrys, Flexion contracture, Long eyelashes, Thick eyebrow OMIM:618658
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... OMIM:164310
Microphthalmia, Syndromic 13
Short stature, Kyphoscoliosis, Ptosis OMIM:300915
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Inability to walk,... ORPHA:99956
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Short stature, Ptosis ORPHA:1373
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Increased sarcoplasmic glycogen, Progressive muscle weakn... ORPHA:264580
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... OMIM:500013
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Broad-based gait, Distal muscle weakness, Short stature, Ataxia, Progres... OMIM:256810
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Limb ataxia, Gait ataxia, Hypomimic face, Ptosis OMIM:619862
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Short stature, Synophrys, Weak extraocular muscles, Blepharophimosis, Thick eyebrow, Fron... OMIM:210745
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis ORPHA:1349
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Nonprogressive restrictive external ophthalmoplegia, Camptodactyly of finger, Facial palsy, Super... OMIM:600638
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability in muscle fibe... OMIM:617302
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Limb muscle weakness, Muscle weaknes... ORPHA:97229
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
External ophthalmoplegia, Torticollis, Scoliosis, Ptosis OMIM:618155
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... OMIM:615761
Kleefstra Syndrome 2
Growth delay, Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Short stature, Facial palsy, Short neck, Kyphosis, Achil... OMIM:301041
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... OMIM:313420
Congenital Myopathy 13
Skeletal muscle atrophy, Telecanthus, Short stature, Kyphoscoliosis, Proximal muscle weakness, Fa... OMIM:255995
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Skeletal muscle... OMIM:300280
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Progressive cerebella... ORPHA:284289
Wieacker-Wolff Syndrome
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, U... OMIM:314580
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... OMIM:607459
Ck Syndrome
Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure... OMIM:300831
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ophthalmoplegia, Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Muscle weakness,... OMIM:618198
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diame... ORPHA:502423
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Distal muscle weakness, Flexion contracture, Unsteady gait, Generalized limb musc... ORPHA:137898
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Gait ataxia, Scoliosis, Intrauterine growth re... OMIM:616355
Ophthalmoplegia Totalis With Ptosis And Miosis
Ophthalmoplegia, Ptosis OMIM:258400
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Muscle weakness OMIM:606407
Distal Duplication 15Q
Congenital muscular torticollis, Camptodactyly of finger, Short neck, Blepharophimosis, Intrauter... ORPHA:1707
Hengel-Maroofian-Schols Syndrome
Epicanthus, Short stature, Foot joint contracture, Inability to walk, Synophrys, Gait imbalance, ... OMIM:619641
Retinal Dystrophy With Leukodystrophy
Waddling gait, Proximal muscle weakness, Bilateral ptosis, Gowers sign, Dysmetria, Falls OMIM:618863
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ophthalmoparesis, Gait disturbance, Scolios... ORPHA:88644
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Facial diplegia, Steppage gait, Lower limb muscle weakness, Foot... ORPHA:521411
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness ORPHA:228302
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Ophthalmo... ORPHA:3068
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Facial hypotonia, Short neck, Inability to walk, Scoliosis, Intraute... OMIM:616801
3Mc Syndrome
Ptosis, Telecanthus, Diastasis recti, Highly arched eyebrow, Hyperlordosis, Postnatal growth reta... ORPHA:293843
Native American Myopathy
Skeletal muscle atrophy, Short stature, Bilateral ptosis, Abnormality of skeletal muscle fiber si... ORPHA:168572
Hall-Riggs Syndrome
Epicanthus, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growt... OMIM:234250
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia, Muscle weakness, Ptosis OMIM:614153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Progressive external ophthalmoplegia, Ataxia, Gait ataxia, Myopathy, Ptosis OMIM:613077
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral ver... ORPHA:2064
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Facial diplegia, Faci... OMIM:613559
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Growth delay, Highly arched eyebrow, Ptosis OMIM:616154
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Severe short stature, Limb joint con... ORPHA:93314
Ophthalmoplegia, Familial Total, With Iris Transillumination
Total ophthalmoplegia, External ophthalmoplegia, Internal ophthalmoplegia, Ptosis OMIM:165098
Diabetes And Deafness, Maternally Inherited
External ophthalmoplegia, Unsteady gait, Ptosis OMIM:520000
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal... OMIM:128100
Brain Dopamine-Serotonin Vesicular Transport Disease
Poor head control, Ataxia, Hypomimic face, Dysdiadochokinesis, Gait disturbance, Shuffling gait, ... ORPHA:352649
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fi... ORPHA:369840
Freeman-Sheldon Syndrome
Short stature, Camptodactyly of finger, Growth delay, Scoliosis, Downslanted palpebral fissures, ... ORPHA:2053
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium ORPHA:2771
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Abdominal wall muscle weakness, Short stature, Ptosis ORPHA:638
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Growth delay, Hypomimic face, Muscle weakness, Limb hypertonia ORPHA:70594
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Progressive cerebellar ataxia, Ge... ORPHA:275872
Atypical Rett Syndrome
Total ophthalmoplegia, Kyphosis, Inability to walk, Gait ataxia, Growth delay, Gait disturbance, ... ORPHA:3095
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Short stature, Ptosis ORPHA:2013
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:1390
Non-Distal Deletion 10Q
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Ptosis ORPHA:1581
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Ptosis, Short stature, Elbow contracture, Multiple pterygia, S... OMIM:178110
Myopathy With Extrapyramidal Signs
Epicanthus, Ataxia, Short neck, Proximal muscle weakness, Gowers sign, Growth delay, Calf muscle ... OMIM:615673
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Gait disturb... ORPHA:589905
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Short stature, Ataxia, Unsteady gait, Limb hypertonia, Difficulty walking, Dow... ORPHA:442835
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter, Lethargy OMIM:604377
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Poor head control, Thick eyebrow, Ptosis ORPHA:444002
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... ORPHA:257
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... OMIM:616239
Fibrosis Of Extraocular Muscles, Congenital, 2
Congenital fibrosis of extraocular muscles, Restrictive external ophthalmoplegia, Bilateral ptosis OMIM:602078
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, ... ORPHA:812
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Difficulty walking, Long ... ORPHA:531151
Baralle-Macken Syndrome
Upslanted palpebral fissure, Kyphosis, Inability to walk OMIM:619255
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Joubert Syndrome 26
Short stature, Ptosis OMIM:616784
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Short stature, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:2057
Danon Disease
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... OMIM:300257
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Proximal muscle weakness, Limb-girdle muscle weakness, Gowers sign, Rhabdomyolysis... OMIM:251900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... ORPHA:70595
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control OMIM:615595
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Proximal muscle weakness, ... ORPHA:300605
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... OMIM:193700
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Schaaf-Yang Syndrome
Thick eyebrow, Short stature, Kyphosis, Inability to walk, Flexion contracture, Scoliosis, Campto... OMIM:615547
Birk-Landau-Perez Syndrome
Ptosis, Camptocormia, Facial hypotonia, Limb ataxia, Growth delay, Upslanted palpebral fissure, C... OMIM:617595
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Downslanted palpebral fissures OMIM:618512
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Kyphosis, Vertebral segmentation defect, Scoliosis, Ptosis ORPHA:2617
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ophthalmoplegia, Ptosis ORPHA:83619
Winchester Syndrome
Kyphosis OMIM:277950
Jaberi-Elahi Syndrome
Broad-based gait, Distal muscle weakness, Sparse eyelashes, Sparse eyebrow, Kyphosis, Inability t... OMIM:617988
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Short stature, Highly arched eyebrow, Hyperlordosis, Short neck, Lagophtha... OMIM:615065
Glycogen Storage Disease Xii
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... OMIM:611881
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Coffin-Siris Syndrome 3
Short stature, Central diaphragmatic hernia, Macroglossia, Long eyelashes, Scoliosis, Intrauterin... OMIM:614608
Ophthalmoplegia, External, And Myopia
Ophthalmoplegia, Ptosis OMIM:311000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Inability to walk, Flexion contracture, Facial diplegia, Scoliosis, Limb... OMIM:218000
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret... ORPHA:238750
Sclerosteosis
Facial palsy, Ptosis ORPHA:3152
Cornelia De Lange Syndrome 5
Telecanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Syno... OMIM:300882
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Ptosis, Short stature, Growth delay, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fu... OMIM:617333
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Inability to walk, Choreoathetosis, Joint contracture, Ptosis OMIM:617664
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Sy... OMIM:613792
Baraitser-Winter Syndrome 2
Telecanthus, Short stature, Highly arched eyebrow, Short neck, Long palpebral fissure, Ptosis OMIM:614583
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Short stature, Ataxia, Ragged-red muscle fibers, Muscle wea... OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Myopathy, Scoliosis OMIM:618234
Autosomal Dominant Optic Atrophy Plus Syndrome
Progressive external ophthalmoplegia, Ataxia, Bilateral ptosis, Limb-girdle muscle weakness, Myop... ORPHA:1215
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Short stature, Loss of ability to walk in early childhood, Respiratory i... OMIM:612073
Foxg1 Syndrome Due To 14Q12 Microdeletion
Epicanthus, Palpebral edema, Kyphosis, Growth delay, Macroglossia, Scoliosis, Blepharophimosis, D... ORPHA:261144
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Mosaic Trisomy 14
Blepharophimosis, Ptosis, Camptodactyly of finger, Short neck ORPHA:1703
Leukodystrophy, Hypomyelinating, 20
Torticollis, Scoliosis, Ptosis OMIM:619071
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Short stature, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scoliosis, ... ORPHA:1323
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Char Syndrome
Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Distal muscle weakness, External ophthalmoplegia, Ragged-red muscle fibers... ORPHA:298
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Ptosis ORPHA:2522
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Short stature, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619989
Marden-Walker Syndrome
Decreased muscle mass, Epicanthus, Short neck, Postnatal growth retardation, Kyphosis, Congenital... OMIM:248700
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Terminal Osseous Dysplasia
Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra... OMIM:300244
Myasthenia Gravis
Facial palsy, Proximal muscle weakness, Fatigable weakness, Limb muscle weakness, Ptosis OMIM:254200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis OMIM:609541
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Epicanthus, Distal muscle weakness, Facial palsy, Hypoplasia of the musc... OMIM:254940
Li-Campeau Syndrome
Telecanthus, Short stature, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:619189
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia ORPHA:319199
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Epicanthus, Telecanthus, Short stature, Camptodactyly of finger, Multipl... ORPHA:2990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Bulbar palsy, Ataxia, Proximal muscle weakness, Ptosis OMIM:615911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy OMIM:616538
X-Linked Intellectual Disability Due To Gria3 Mutations
Distal muscle weakness, Facial hypotonia, Short stature, Kyphosis, Scoliosis, Eversion of lateral... ORPHA:364028
Ruvalcaba Syndrome
Short stature, Kyphosis, Scoliosis, Delayed puberty, Downslanted palpebral fissures OMIM:180870
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Epicanthus, Short stature, Kyphosis, Hemiverte... ORPHA:2916
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Long eyelashes, Muscle weakness, Ptosis OMIM:619076
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Ophthalmoplegia, Dysmetria, Muscle weakness, Ptosis OMIM:618170
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis OMIM:617268
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Scoliosis, Mild sh... OMIM:130060
Pontocerebellar Hypoplasia, Type 16
Ptosis, Skeletal muscle atrophy, Scoliosis, Limb hypertonia OMIM:619527
Urban-Rogers-Meyer Syndrome
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Upslanted palpebral fis... ORPHA:3409
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
3Mc Syndrome 2
Ptosis, Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle age... OMIM:265050
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:615433
Wagr Syndrome
Short stature, Scoliosis, Ptosis ORPHA:893
Legius Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short neck OMIM:611431
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Scoliosis, Intrauterine... ORPHA:2319
Spinocerebellar Ataxia 47
Ataxia, Short stature, Dysmetria, Ptosis OMIM:617931
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Kyphosis, Inability to walk, Limb hypertonia ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ophthalmoplegia, Ataxia, Ptosis OMIM:618225
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure... OMIM:301069
Shashi-Pena Syndrome
Ptosis, Epicanthus, Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervic... OMIM:617190
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Blepharophimosis, Telecanthus, Ptosis OMIM:606772
Hypotonia-Cystinuria Syndrome
Growth delay, Epicanthus, Ptosis ORPHA:163690
Warburg Micro Syndrome 1
Short stature, Kyphoscoliosis, Ptosis OMIM:600118
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Ataxia, Ptosis ORPHA:1933
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Kyphosis, Macroglossia, Scoliosis, Achalasia ORPHA:79107
Arthrogryposis, Distal, Type 1A
Hip contracture, Short stature, Elbow flexion contracture, Knee flexion contracture, Scoliosis, C... OMIM:108120
Cockayne Syndrome Type 2
Ataxia, Kyphosis, Flexion contracture, Conjunctivitis, Gait disturbance, Scoliosis, Difficulty wa... ORPHA:90322
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Ververi-Brady Syndrome
Short stature, Unsteady gait, Upslanted palpebral fissure, Scoliosis, Intrauterine growth retarda... OMIM:617982
15Q24 Microdeletion Syndrome
Epicanthus, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyphosi... ORPHA:94065
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contractu... OMIM:619293
Fetal Trimethadione Syndrome
Epicanthus, Synophrys, Scoliosis, Intrauterine growth retardation, Ptosis ORPHA:1913
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Dysmetria, Limb ataxia, Difficulty walking, Truncal ataxia, Ptosis ORPHA:276198
Hypomelanosis Of Ito
Kyphosis, Epicanthus, Scoliosis OMIM:300337
Combined Oxidative Phosphorylation Deficiency 47
Ptosis, Intrauterine growth retardation, Platyspondyly, Short neck OMIM:618958
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Epicanthus, Short neck, Postnatal growth retardation, Macroglossia, Long palpebral... OMIM:615668
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Epicanthus, Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Bilateral ptosis, Growth... OMIM:619557
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Synophrys, Inability to ... OMIM:618443
Frias Syndrome
Downslanted palpebral fissures, Short stature, Ptosis OMIM:609640
Rett Syndrome
Skeletal muscle atrophy, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal a... OMIM:312750
Smith-Mccort Dysplasia 1
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... OMIM:607326
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Ophthalmoplegia, Scoliosis, Ptosis OMIM:618731
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Autosomal Recessive Spastic Paraplegia Type 77
Poor head control, Kyphoscoliosis, Scissor gait, Loss of ambulation, Lower limb amyotrophy, Ptosis ORPHA:466722
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Epicanthus, Short stature, Facial palsy, Aplasia of the pectoralis major... ORPHA:1358
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Short stature, Kyphoscoliosis, Postnatal growth retardation, Camptodacty... OMIM:612513
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Noonan Syndrome 11
Downslanted palpebral fissures, Short stature, Ptosis OMIM:618499
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Ataxia, Inability to walk, Upslanted palpebral fissure, Hypomimic face, Ptosis OMIM:617854
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, W... ORPHA:98673
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Ophthalmoplegia, Congenital finger flexion contractures, Ptosis ORPHA:1154
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation d... ORPHA:1915
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Ophthalmoplegia, Ataxia, Ptosis OMIM:618226
Distal Duplication 6P
Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Blepharophimosis, Intraute... ORPHA:1745
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Short stature, Ataxia, Short neck, Upslanted palpebral fissure, Arthrogryposis-like h... ORPHA:369891
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
Lopes-Maciel-Rodan Syndrome
Kyphosis, Unsteady gait, Scoliosis OMIM:617435
Tetrasomy 12P
Telecanthus, Short stature, Short neck, Sparse eyebrow, Upslanted palpebral fissure, Ptosis ORPHA:884
Coffin-Siris Syndrome 5
Short stature, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis OMIM:616938
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retardation, Short... ORPHA:168549
Frontoocular Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:605321
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Long palpebral f... OMIM:603387
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Hartsfield Syndrome
Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Aarskog-Scott Syndrome
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Downslanted palpebral fissures, A... ORPHA:915
Neuropathy, Congenital Hypomyelinating, 3
Ptosis, Epicanthus, Limb joint contracture, Flexion contracture, Facial diplegia, Neonatal death,... OMIM:618186
Basilar Impression, Primary
Horner syndrome, Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Gait disturbance, Joint contr... OMIM:620098
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Gait ataxia, Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures... OMIM:268850
Warburg Micro Syndrome 4
Decreased muscle mass, Short stature, Inability to walk, Flexion contracture, Severe postnatal gr... OMIM:615663
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Myotonic Dystrophy 2
Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul... OMIM:602668
Fountain Syndrome
Epicanthus, Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis,... ORPHA:3219
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Facial hypotonia, Growth delay, Upslanted palpebral fissure, Scoliosis, Downslanted p... OMIM:618659
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Short stature, Short neck, Kyphosis, Scoliosis ORPHA:3191
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Severe short stature, Scoliosis, Hyperlordosis ORPHA:2511
Pontocerebellar Hypoplasia, Type 17
Epicanthus, Kyphosis, Upslanted palpebral fissure, Intrauterine growth retardation, Limb hypertonia OMIM:619909
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Short stature, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral... OMIM:617360
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, External ophthalmoplegia, Gait disturbance, Loss of ambulation, Muscle weakness, Ptosis OMIM:615838
Cluster Headache, Familial
Ptosis OMIM:119915
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Short stature, Kyphosis, Gait ataxia, Macroglossia, Delayed puberty OMIM:300354
Congenital Ptosis
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Congenital facial diplegia, Epicanthu... ORPHA:91411
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis OMIM:259440
Sjögren-Larsson Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:816
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Gait ataxia, Arthrogryposis multiplex congenita, Ptosis OMIM:243180
Ruvalcaba Syndrome
Ptosis, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Downslante... ORPHA:3121
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect... OMIM:253220
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Flynn-Aird Syndrome
Kyphosis, Ataxia, Scoliosis, Skeletal muscle atrophy ORPHA:2047
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Facial palsy, Camptodactyly of finger, Sparse eyebrow, Kyphosis, Growth ... ORPHA:261349
Short Stature And Facioauriculothoracic Malformations
Ptosis, Abnormal odontoid process morphology, Proportionate short stature, Short neck OMIM:609654
Ascher Syndrome
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology ORPHA:1253
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Scoliosis, Ptosis OMIM:615280
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis ORPHA:702
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Weakness of facial musculature, Facial palsy, Ptosis OMIM:616323
Dystonia 34, Myoclonic
Torticollis, Impaired tandem gait, Ptosis OMIM:619724
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Broad-based gait, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Synop... ORPHA:85293
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Long palpebral fissure, Kyphosis, Scoliosis OMIM:619797
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph... ORPHA:2311
Snakebite Envenomation
Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Frank-Ter Haar Syndrome
Camptodactyly of finger, Kyphosis, Scoliosis, Beaking of vertebral bodies, Downslanted palpebral ... ORPHA:137834
Noonan Syndrome 8
Epicanthus, Short stature, Short neck, Left ventricular hypertrophy, Downslanted palpebral fissur... OMIM:615355
Trisomy 17P
Skeletal muscle atrophy, Short stature, Short neck, Flexion contracture, Growth delay, Macrogloss... ORPHA:261290
Noonan Syndrome 9
Short stature, Short neck, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:616559
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Hemivertebrae, Dysmetria, Scoliosis, Ptosis OMIM:614688
Machado-Joseph Disease
Ataxia, External ophthalmoplegia, Limb ataxia, Progressive cerebellar ataxia, Distal amyotrophy, ... OMIM:109150
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Sacral dimple, Hemivertebrae, Short stature OMIM:619318
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Postnatal growth retardation, Scoliosis, Blepharophimosis, Intrauterine growth retard... ORPHA:494344
Toxin-Mediated Infectious Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis ORPHA:230800
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Downslanted palpebral fissures, Scoliosis, Ptosis OMIM:618736
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Skeletal m... ORPHA:436271
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Contracture of the... OMIM:618050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Disproportionate short stature, Ptosis ORPHA:2868
Joubert Syndrome 35
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Ptosis OMIM:618161
Juberg-Hayward Syndrome
Short stature, Highly arched eyebrow, Ptosis OMIM:216100
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
Codas Syndrome
Epicanthus, Short stature, Abnormal form of the vertebral bodies, Coronal cleft vertebrae, Scolio... ORPHA:1458
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Downslanted palpebral fissures, Ptosis OMIM:616828
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Congenital bilateral ptosis, Severe postnatal growth... ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Epicanthus, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... OMIM:617061
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Diastasis recti, Highly arched e... OMIM:257920
Intellectual Developmental Disorder With Autism And Macrocephaly
Downslanted palpebral fissures, Ptosis OMIM:615032
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Epicanthus, Telecanthus, Poor head control, Highly arched eyebrow, Short neck, Syn... OMIM:613776
Baraitser-Winter Syndrome 1
Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Long ... OMIM:243310
Frontofacionasal Dysplasia
Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... ORPHA:1791
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Choreoathetosis, Poor head control, Ptosis OMIM:618451
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... ORPHA:628
Neuromuscular Oculoauditory Syndrome
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG:... OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Ataxia, Ptosis ORPHA:101150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Poor head control, Ataxia, Choreoathetosis, Falls, Ptosis ORPHA:13
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Muscle weakness, Ptosis OMIM:619046
Noonan Syndrome 6
Epicanthus, Short stature, Long eyebrows, Short neck, Bilateral ptosis, Growth delay, Downslanted... OMIM:613224
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Isolated Atp Synthase Deficiency
Ataxia, Short stature, Ophthalmoplegia, Muscle weakness, Ptosis ORPHA:254913
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Telecanthus, Ptosis ORPHA:397973
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology ORPHA:732
Postencephalitic Parkinsonism
Camptocormia, Akinesia, Kyphosis, Bilateral ptosis, Generalized muscle weakness ORPHA:97349
Coffin-Siris Syndrome 2
Short stature, Macroglossia, Long eyelashes, Intrauterine growth retardation, Thick eyebrow, Ptosis OMIM:614607
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion contracture of... ORPHA:88628
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Broad-based gait, Short stature, Kyphoscoliosis, Short neck, Sparse eyebro... OMIM:309583
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Ptosis, Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Sp... OMIM:616007
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re... OMIM:617022
Refsum Disease, Classic
Limb muscle weakness, Ataxia, Ptosis OMIM:266500
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Frontonasal Dysplasia 1
Epicanthus, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Joint contracture of the hand, Ptosis OMIM:136760
Joubert Syndrome 7
Ataxia, Scoliosis, Ptosis OMIM:611560
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short stature, Short neck, Kyphosis, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow ORPHA:3082
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis ORPHA:1545
Intellectual Developmental Disorder, Autosomal Dominant 34
Epicanthus, Broad-based gait, Bilateral ptosis, Synophrys, Upslanted palpebral fissure OMIM:616351
3Mc Syndrome 3
Sacral dimple, Short stature, Diastasis recti, Highly arched eyebrow, Growth delay, Blepharophimo... OMIM:248340
Kury-Isidor Syndrome
Sacral dimple, Short neck, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:619762
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Monosomy 18P
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Ptosis ORPHA:1598
Trisomy 20P
Epicanthus, Camptodactyly of finger, Highly arched eyebrow, Short neck, Kyphosis, Abnormal form o... ORPHA:261318
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Episodic ataxia, Ptosis OMIM:312170
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Upslanted palpebral fissur... ORPHA:1005
Hadziselimovic Syndrome
Epicanthus, Short stature, Ptosis OMIM:612946
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Ptosis OMIM:608747
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short stature, Hyperlordosis ORPHA:3085
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Desbuquois Dysplasia 1
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Growth delay, Platyspon... OMIM:251450
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Ptosis OMIM:245348
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
3M Syndrome
Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis,... ORPHA:2616
Clark-Baraitser syndrome
Kyphosis, Downslanted palpebral fissures, Scoliosis OMIM:300602
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Ptosis ORPHA:1876
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Mild short stature, Foot dorsiflexor weakness OMIM:169400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Kyphosis, Synophrys, Flexion contracture, Abnormal form of the ve... ORPHA:3042
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Ophthalmoplegia, Knee flexion contracture, Difficulty wal... OMIM:617239
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Telecanthus, Short stature, Short neck, Kyphosis, Scolio... OMIM:130720
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short stature, Sparse eyelashes, Blepharophimosis, Postnatal growth retardation, Sparse eyebrow, ... OMIM:613026
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... OMIM:223800
Noonan Syndrome 5
Epicanthus, Short stature, Short neck, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:611553
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Short stature, Blepharophimosis, Camptodactyly of toe, Thick eyebrow, Pt... ORPHA:127
Craniosynostosis 3
Ptosis OMIM:615314
Keipert Syndrome
Epicanthus, Short stature, Ptosis ORPHA:2662
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Spinocerebellar Ataxia 50
Ataxia, Ptosis OMIM:620158
Wound Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis ORPHA:178475
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Bilateral ptosis, Upslanted palpebral fissure, Scoliosis, Blepha... ORPHA:404440
Noonan Syndrome 4
Epicanthus, Short stature, Short neck, Sparse eyebrow, Bilateral ptosis, Scoliosis, Downslanted p... OMIM:610733
Coach Syndrome 3
Ataxia, Ptosis OMIM:619113
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Blepharophimosis, Flexion contracture, Downslanted palpebral fissures, Ptosis ORPHA:391372
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Ptosis, Torticollis, Telecanthus, Short neck, Inability to walk by childhood/adolescence, Upslant... OMIM:620224
Acrofrontofacionasal Dysostosis
Short stature, Camptodactyly of finger, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/... ORPHA:1784
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Synophrys, Scoliosis, Thick eyebrow, Ptosis ORPHA:894
Meckel Syndrome, Type 10
Epicanthus, Sacral dimple, Narrow palpebral fissure, Camptodactyly, Ptosis OMIM:614175
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Intrauterine growth retardation, Downslante... ORPHA:2075
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Sh... ORPHA:800
Intellectual Developmental Disorder, Autosomal Recessive 65
Unsteady gait, Gait ataxia, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618109
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Epicanthus, Short stature, Kyphosis, Abnormal form of the vertebral bodi... ORPHA:192
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Ophthalmoparesis, Episodic flaccid weakness, Re... ORPHA:79102
Mucopolysaccharidosis Type 4
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait di... ORPHA:582
Alpha-Mannosidosis
Macroglossia, Kyphosis, Scoliosis, Short neck ORPHA:61
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Epicanthus, Progressive external ophthalmoplegia, Short stature, Proxima... OMIM:619743
Leigh Syndrome
Ophthalmoplegia, Ataxia, Ptosis OMIM:256000
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Gm1 Gangliosidosis
Short stature, Camptodactyly of finger, Ataxia, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of th... ORPHA:354
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Synophrys, Prominent p... OMIM:300966
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Downslanted palpebral fissures OMIM:616294
Idiopathic Camptocormia
Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ... ORPHA:1320
22Q11.2 Duplication Syndrome
Epicanthus, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:1727
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... ORPHA:17
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Facial hypotonia, Sparse eyebrow, Epiblepharon, Distal arthrogryposis... OMIM:617557
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Keratoconjunctivitis sicca, Abnormality of the orbital region ORPHA:43393
Purpura Simplex
Ptosis OMIM:179000
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:615009
Cole-Carpenter Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... ORPHA:2050
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Short stature, Upslanted palpebral fissure, Fused cervical vertebrae, Gait imbalance,... OMIM:617159
Autosomal Dominant Progressive External Ophthalmoplegia
Ptosis, Ataxia, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalmopleg... ORPHA:254892
Joubert Syndrome 3
Epicanthus, Ataxia, Highly arched eyebrow, Ptosis OMIM:608629
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the ver... ORPHA:93360
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Ptosis ORPHA:93262
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Ptosis OMIM:616083
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contrac... OMIM:618493
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Facial hypotonia, Ataxia, Inability to walk, Upslanted palpebral fissure, Ptosis OMIM:300260
Miller Fisher Syndrome
Bulbar palsy, Ataxia, Facial palsy, External ophthalmoplegia, Internal ophthalmoplegia, Ptosis ORPHA:98919
Developmental And Epileptic Encephalopathy 110
Poor head control, Ptosis OMIM:620149
19P13.12 Microdeletion Syndrome
Epicanthus, Short neck, Kyphosis, Synophrys, Scoliosis, Intrauterine growth retardation, Arthrogr... ORPHA:254346
Rhyns Syndrome
Ptosis ORPHA:140976
Joubert Syndrome
Ataxia, Highly arched eyebrow, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis... ORPHA:475
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Megalocornea-Intellectual Disability Syndrome
Epicanthus, Short stature, Ataxia, Kyphosis, Scoliosis, Downslanted palpebral fissures ORPHA:2479
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus... OMIM:619036
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Hooded eyelid, Kyphoscoliosis, Congenital diaphragmat... ORPHA:96170
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... ORPHA:958
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, External ophthalmoplegia, Inability to walk, Gait ataxia, Ptosis OMIM:607483
Scarf Syndrome
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... ORPHA:3134
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Short neck, Almond-shaped palpebral fissure, Scoliosis, Downsl... OMIM:619087
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Downslanted palpebral fissures ORPHA:236
Combined Oxidative Phosphorylation Deficiency 12
Ophthalmoplegia, Ragged-red muscle fibers, Poor head control OMIM:614924
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Irregular vertebral endplates, Narrow palpebral fissure, Long palpe... ORPHA:439822
Waardenburg Syndrome Type 2
Telecanthus, Ptosis ORPHA:895
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Kyphosis, Scoliosis, Ptosis ORPHA:1969
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Vertebral seg... ORPHA:96169
Aarskog-Scott Syndrome
Short stature, Short neck, Hypoplasia of the odontoid process, Cervical spine hypermobility, Scol... OMIM:305400
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contracture, Growth dela... OMIM:618947
Lateral Meningocele Syndrome
Epicanthus, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:2789
Ohdo Syndrome
Epicanthus, Short stature, Sparse eyebrow, Blepharophimosis, Ptosis OMIM:249620
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Noonan Syndrome 14
Scapular winging, Epicanthus, Short stature, Lacrimal duct stenosis, Short neck, Sparse eyebrow, ... OMIM:619745
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Short stature, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Ptosis OMIM:616723
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Upslanted palpebral fissur... OMIM:609029
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Acrofrontofacionasal Dysostosis 2
Downslanted palpebral fissures, Sacral dimple, Short stature, Ptosis OMIM:239710
Joubert Syndrome 37
Lumbar hyperlordosis, Short stature, Ptosis OMIM:619185
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:3236
Craniosynostosis 6
Spina bifida occulta, Scoliosis, Ptosis OMIM:616602
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Abdominal wall muscle weakness, Poor head control, Diastasis recti, Scoliosis, Hoode... OMIM:618548
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Nonprogressive restrictive external ophthalmoplegia, ... OMIM:609428
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Long eyelashes, Difficulty... OMIM:618476
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis OMIM:619465
Pfeiffer Syndrome
Ptosis, Hyperlordosis, Short stature, Short neck ORPHA:710
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the dista... OMIM:607015
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Spina bifida occulta, Short stature, Ptosis ORPHA:1185
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Ptosis, Short stature, Epicanthus, Kyphosis, Hypotrophy of the s... OMIM:610443
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Severe short stature, Camptodactyly of ... ORPHA:2215
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi... ORPHA:73246
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Increased intramyocel... OMIM:220110
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Ptosis OMIM:210700
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Arachnoid Cyst
Back pain, Distal muscle weakness, Facial palsy, Inability to walk, Gait disturbance, Oculomotor ... ORPHA:2356
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Alexander Disease
Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Gait disturbance, Scoliosis, Muscle we... ORPHA:58
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Synophrys, Spina bifida occulta, Short neck ORPHA:2983
Takenouchi-Kosaki Syndrome
Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Scoliosis,... OMIM:616737
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Kyphosis, Upslante... OMIM:617602
Combined Oxidative Phosphorylation Deficiency 33
Progressive external ophthalmoplegia, Myopathy, Left ventricular hypertrophy, Intrauterine growth... OMIM:617713
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Epicanthus, Short stature, Highly arched eyebrow, Short neck, Po... OMIM:213980
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Joubert Syndrome With Ocular Defect
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Abnormal vertebral morphology, Ptosis ORPHA:220493
Nail-Patella Syndrome
Back pain, Biceps aplasia, Lumbar hyperlordosis, Short stature, Absence of pectoralis minor muscl... OMIM:161200
Iatrogenic Botulism
Diaphragmatic paralysis, Muscle weakness, Ptosis ORPHA:254509
Joubert Syndrome With Renal Defect
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Ptosis ORPHA:220497
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Short palpebral fissure, Ptosis OMIM:617563
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... ORPHA:1900
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Ophthalmoplegia, Dysmetria, Lower limb hypertonia, Dysdiadochokinesis, Neck muscle weak... ORPHA:171629
3C Syndrome
Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae, Scoliosis, Down... ORPHA:7
Weiss-Kruszka Syndrome
Epicanthus, Highly arched eyebrow, Left ventricular hypertrophy, Downslanted palpebral fissures, ... OMIM:618619
Isolated Complex I Deficiency
Poor head control, Ataxia, Intrauterine growth retardation, Abnormal mitochondria in muscle tissu... ORPHA:2609
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Short neck, Kyphosis, Flexion contracture, Macroglossia, Mil... OMIM:309900
Chromosome 18P Deletion Syndrome
Epicanthus, Short stature, Short neck, Hypomimic face, Ptosis OMIM:146390
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Short neck, Growth delay, Eurybl... ORPHA:2995
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Proximal muscle weakness, Growth delay, Scoliosis, Muscle weakness, Ptosis OMIM:615895
Crouzon Syndrome
Abnormal sacrum morphology, Conjunctivitis, Ptosis ORPHA:207
Cardiac-Valvular Ehlers-Danlos Syndrome
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Left ventricular hypertrophy, Tendon rupt... ORPHA:230851
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Scoliosis, Slanting of the palpe... ORPHA:476126
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Short stature, Downslanted palpebral fissures, Ptosis ORPHA:2496
X-Linked Creatine Transporter Deficiency
Athetosis, Short stature, Ataxia, Ptosis ORPHA:52503
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp... OMIM:253010
Developmental And Epileptic Encephalopathy 84
Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:618792
Foodborne Botulism
Respiratory insufficiency due to muscle weakness, Diaphragmatic paralysis, Muscle weakness, Ptosis ORPHA:228371
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Kosaki Overgrowth Syndrome
Thoracolumbar scoliosis, Xanthelasma, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:616592
Loeys-Dietz Syndrome 5
Ptosis, Decreased muscle mass, Scapular winging, Short stature, Kyphoscoliosis, Cervical spine in... OMIM:615582
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Neonatal Adrenoleukodystrophy
Short stature, Ptosis ORPHA:44
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... ORPHA:15
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow, Short neck OMIM:619955
Visceral Myopathy, Familial, With External Ophthalmoplegia
External ophthalmoplegia, Ophthalmoplegia, Ptosis OMIM:277320
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Ophthalmoparesis, Ptosis OMIM:560000
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Ataxia ORPHA:324737
2Q31.1 Microdeletion Syndrome
Epicanthus, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Synophrys, Vertebral se... ORPHA:251014
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Ptosis ORPHA:1473
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... OMIM:259420
Joubert Syndrome 14
Epicanthus, Ataxia, Highly arched eyebrow, Growth delay, Downslanted palpebral fissures, Ptosis OMIM:614424
X-Linked Mandibulofacial Dysostosis
Epicanthus, Short stature, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1131
Polyvalvular Heart Disease Syndrome
Short stature, Ptosis ORPHA:228410
Ophthalmoplegia, Familial Static
Ophthalmoplegia, Ptosis OMIM:165000
Kbg Syndrome
Vertebral fusion, Telecanthus, Short stature, Short neck, Synophrys, Vertebral arch anomaly, Thor... OMIM:148050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... ORPHA:2461
Acrocraniofacial Dysostosis
Telecanthus, Short stature, Abnormal form of the vertebral bodies, Spina bifida occulta, Downslan... ORPHA:949
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Wiedemann-Steiner Syndrome
Sacral dimple, Epicanthus, Rhizomelia, Short stature, Telecanthus, Thick eyebrow, Postnatal growt... ORPHA:319182
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Thin eyebrow, Cervical C... OMIM:618000
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short stature, Highly arched eyebrow, Growth delay, Long eyelashes, Delayed puberty, Intrauterine... OMIM:615866
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Decreased muscle mass, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis... ORPHA:3063
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Long eyelashes, Ptosis OMIM:617523
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Short stature ORPHA:93274
Myasthenia Gravis
Myositis, Bulbar palsy, Ophthalmoparesis, Muscle weakness, Ptosis ORPHA:589
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:3378
20Q11.2 Microduplication Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Growth delay, Severe intrauterine growth retardation,... ORPHA:363659
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Achalasia, Distichiasis, Ptosis ORPHA:91416
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Kyphosis, Inability to walk, Scoliosis, Difficulty walking, Downslant... ORPHA:464738
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Short stature, Increased vertebral height, Camptod... OMIM:613385
Gm1-Gangliosidosis, Type I
Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Intrauterine... OMIM:230500
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:619075
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Short neck, Growth delay, Camptodactyly, Downslanted palpebral fissures, Short palpeb... OMIM:614230
Cohen Syndrome
Short stature, Abnormal eyelid morphology, Abnormal eyelash morphology, Kyphosis, Long eyelashes,... ORPHA:193
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:1778
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Ragged-red muscle fibers, Ophthalmo... OMIM:603041
Fetal Hydantoin Syndrome
Intrauterine growth retardation, Epicanthus, Short stature, Ptosis ORPHA:1912
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Limb ataxia, Truncal ataxia, Muscle weakness, Ptosis OMIM:105210
Rubinstein-Taybi Syndrome
Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Nasolacrimal duct obstruction, Dow... ORPHA:783
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Short stature, Ptosis ORPHA:66629
Abetalipoproteinemia
Broad-based gait, Ataxia, Kyphoscoliosis, Ophthalmoplegia, Dysmetria, Gait ataxia, Myopathy, Kera... ORPHA:14
Microcephaly-Capillary Malformation Syndrome
Ptosis, Short stature, Right ventricular hypertrophy OMIM:614261
Dysostosis, Stanescu Type
Short stature, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Noonan Syndrome 10
Epicanthus, Short stature, Short neck, Sparse eyebrow, Scoliosis, Left ventricular hypertrophy, D... OMIM:616564
Hurler Syndrome
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Bil... OMIM:607014
Microphthalmia, Lenz Type
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Ankyloblepharon, Scoliosis ORPHA:568
Van Maldergem Syndrome 1
Sacral dimple, Epicanthus, Growth delay, Scoliosis, Camptodactyly, Blepharophimosis, Short palpeb... OMIM:601390
Scarf Syndrome
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... OMIM:312830
Distal Triplication 15Q
Telecanthus, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Intrauterine growth retarda... ORPHA:314588
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness, Ataxia, Ophthalmopl... ORPHA:506
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Up... ORPHA:457359
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... ORPHA:583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Muenke Syndrome
Downslanted palpebral fissures, Ptosis OMIM:602849
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, ... OMIM:301040
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Short stature, Ptosis OMIM:247410
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Short stature, Ptosis OMIM:609037
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Blepharophimosis, Ptosis ORPHA:2728
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Highly arched eyebrow, Kyphosis, Scoliosis, Downslanted palpebral fissures OMIM:619951
Distal Deletion 3P
Sacral dimple, Epicanthus, Short stature, Telecanthus, Short neck, Blepharophimosis, Intrauterine... ORPHA:1620
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Ataxia, Scoliosis, Ptosis ORPHA:2318
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Kyphosis, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:616449
Cenani-Lenz Syndrome
Ptosis, Abnormal form of the vertebral bodies, Scoliosis, Downslanted palpebral fissures, Ectropion ORPHA:3258
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Ptosis ORPHA:178481
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis ORPHA:2988
Aase-Smith Syndrome I
Flexion contracture, Ptosis OMIM:147800
15Q14 Microdeletion Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:261190
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate short stature,... OMIM:616482
Phelan-Mcdermid Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Broad-based gait, Unsteady gait, Long eyelashes, Thic... OMIM:606232
Refsum Disease
Skeletal muscle atrophy, Ataxia, Ptosis ORPHA:773
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short stature, Ptosis OMIM:606220
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis, Ptosis ORPHA:391474
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Epicanthus, Short stature, Telecanthus, Short neck, Kyphosis, Upslanted palpebral ... OMIM:616894
Rhyns Syndrome
Total ophthalmoplegia, Short stature, Ptosis OMIM:602152
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis ORPHA:500055
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Short stature, Hooded eyelid, Highly arched eyebrow, Short neck, Syno... OMIM:610759
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Telecanthus, Elbow contracture, Camptodactyly of finger, ... OMIM:208150
Neurofibromatosis-Noonan Syndrome
Epicanthus, Short stature, Short neck, Scoliosis, Lisch nodules, Downslanted palpebral fissures, ... OMIM:601321
Lymphedema-Distichiasis Syndrome
Ptosis, Conjunctivitis, Distichiasis, Muscle weakness, Ectropion ORPHA:33001
Cdags Syndrome
Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Ectropion OMIM:603116
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Goldberg-Shprintzen Syndrome
Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Limb hypertonia, Downslanted palpebral... OMIM:609460
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Flexion contracture of the 2nd toe, Scoliosis, Flexion contracture of the ... ORPHA:2712
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Abdominal wall muscle weakness, C1-C2 vertebral abnormality, Scoliosis, Shallow orbi... OMIM:182212
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short stature, Highly arched eyebrow, Synophrys, Lower limb hypertonia, Downslanted palpebral fis... OMIM:616728
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Short stature, Ptosis OMIM:300845
Tyshchenko Syndrome
Intrauterine growth retardation, Short stature, Ptosis OMIM:615102
Inhalational Botulism
Muscle weakness, Ptosis ORPHA:254504
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Choreoathetosis, Limb hypertonia, Athetosis, Ptosis OMIM:608643
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Poor head control, Ataxia, Ragged-red muscle fibers, Growth delay, Upsla... OMIM:252010
Joubert Syndrome 30
Ptosis OMIM:617622
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Entropion, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Mucolipidosis Type Ii
Hip contracture, Epicanthus, Short stature, Diastasis recti, Postnatal growth retardation, Kyphos... ORPHA:576
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Short stature, Lacrimal duct stenosis, Growth delay, Ptosis ORPHA:457193
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:104350
Wolfram Syndrome 1
Growth delay, Ataxia, Ptosis OMIM:222300
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Oculomotor nerve palsy, Spina bifida occulta, Abnormal form ... ORPHA:233
Beck-Fahrner Syndrome
Facial hypotonia, Lacrimal duct stenosis, Ptosis OMIM:618798
Noonan Syndrome With Multiple Lentigines
Scapular winging, Short stature, Aplasia/Hypoplasia of the abdominal wall musculature, Growth del... ORPHA:500
8Q21.11 Microdeletion Syndrome
Epicanthus, Camptodactyly of finger, Short neck, Blepharophimosis, Downslanted palpebral fissures... ORPHA:284160
Buratti-Harel Syndrome
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619314
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Angelman Syndrome
Broad-based gait, Ataxia, Inability to walk, Scoliosis, Delayed menarche, Ptosis ORPHA:72
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Vertebral segmentation defect, Scoliosis, Shallow orbits, Long palpebral fissure, I... ORPHA:453499
Saethre-Chotzen Syndrome
Epicanthus, Short stature, Hyperlordosis, Abnormal form of the vertebral bodies, Blepharospasm, S... ORPHA:794
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... ORPHA:572333
Loeys-Dietz Syndrome 4
Torticollis, Scoliosis, Spondylolisthesis, Downslanted palpebral fissures, Ptosis OMIM:614816
Kabuki Syndrome
Short stature, Congenital diaphragmatic hernia, Highly arched eyebrow, Vertebral clefting, Hemive... ORPHA:2322
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture, Dysmetria, Muscle weakness OMIM:212065
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Flexion contracture, Elbow flexion contracture, Long eyelashes, Arthrogryposis m... OMIM:617301
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Synophrys, Flexion contractu... ORPHA:487796
Cardiofaciocutaneous Syndrome
Epicanthus, Short stature, Short neck, Abnormal eyelash morphology, Sparse or absent eyelashes, S... ORPHA:1340
Kallmann Syndrome
Ataxia, Gait disturbance, Delayed puberty, Muscle weakness, Ptosis ORPHA:478
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Short stature, Gait disturbance, Ptosis OMIM:300352
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Campt... OMIM:143095
Wolf-Hirschhorn Syndrome
Sacral dimple, Epicanthus, Ataxia, Congenital diaphragmatic hernia, Highly arched eyebrow, Kyphos... ORPHA:280
Van Maldergem Syndrome 2
Sacral dimple, Epicanthus, Growth delay, Narrow palpebral fissure, Scoliosis, Blepharophimosis, S... OMIM:615546
Moebius Syndrome
Skeletal muscle atrophy, Epicanthus, Facial palsy, Ophthalmoplegia, Aplasia of the pectoralis maj... ORPHA:570
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Abnormalit... ORPHA:1328
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal inter... OMIM:618223
Melas
Progressive external ophthalmoplegia, Short stature, Ragged-red muscle fibers, Myopathy, Abnormal... ORPHA:550
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Kyphosis, Keratoconjunctivitis sicca, Intrauterine growth retardation, Downslan... OMIM:616914
Jacobsen Syndrome
Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Flexion contracture, Nasolacrim... OMIM:147791
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Sacral dimple, External ophthalmoplegia, Narrow palpebral fissure, Downslanted palpeb... OMIM:613603
Harrod Syndrome
Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:2115
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Joubert Syndrome 1
Epicanthus, Poor head control, Ataxia, Highly arched eyebrow, Macroglossia, Ptosis OMIM:213300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Type 1 muscle fiber atrophy, Growth delay, Macroglossia, Vertebral segmentatio... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Type 1 muscle fiber atrophy, Growth delay, Macroglossia, Vertebral segmentatio... ORPHA:352665
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrop... ORPHA:2232
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia, Upslanted palpebral fissure, Scoliosis, Dow... OMIM:617011
Autosomal Dominant Robinow Syndrome
Sacral dimple, Severe short stature, Short stature, Camptodactyly of finger, Curly eyelashes, Sho... ORPHA:3107
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Six2-Related Frontonasal Dysplasia
Intrauterine growth retardation, Epicanthus inversus, Short stature, Ptosis ORPHA:488437
Fucosidosis
Kyphosis, Decreased muscle mass, Anterior beaking of lumbar vertebrae ORPHA:349
Autosomal Recessive Robinow Syndrome
Sacral dimple, Epicanthus, Camptodactyly of finger, Short neck, Kyphosis, Upslanted palpebral fis... ORPHA:1507
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... ORPHA:273
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Congenital diaphragmatic hernia, Ptosis ORPHA:1647
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Branchio-Oculo-Facial Syndrome
Short stature, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Intrauterine growth re... ORPHA:1297
Dubowitz Syndrome
Sacral dimple, Epicanthus, Short stature, Telecanthus, Postnatal growth retardation, Blepharophim... OMIM:223370
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Poor head control, Short stature, Facial palsy, Hyperlordosis, Bilateral ptosis, Ectr... OMIM:615873
Pycnodysostosis
Rhizomelia, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Disproportionate short-limb short ... ORPHA:763
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Short stature, Ptosis ORPHA:2031
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bilateral ptosis, Flexion contracture of the 2nd finger, Long eyelashes, Joint contracture of the... ORPHA:324540
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Short stature, Ovoid vertebral bodies, Sparse eyebrow, Upslanted palpebr... OMIM:244450
Osteogenesis Imperfecta, Type Iv
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Noonan Syndrome 2
Epicanthus, Short stature, Short neck, Sparse eyebrow, Arthrogryposis multiplex congenita, Downsl... OMIM:605275
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619493
Dubowitz Syndrome
Sacral dimple, Epicanthus, Short stature, Telecanthus, Postnatal growth retardation, Scoliosis, B... ORPHA:235
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature ORPHA:1860
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Short stature, Short neck, Absent eyelashes, Scoliosis, Palpebral thi... OMIM:115150
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Scoliosis, Epicanthus inversus, Ptosis OMIM:617062
Micro Syndrome
Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation ORPHA:2510
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Thick eyebrow OMIM:162300
Prader-Willi Syndrome
Decreased muscle mass, Short stature, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpeb... OMIM:176270
Joubert Syndrome With Hepatic Defect
Ataxia, Highly arched eyebrow, Gait disturbance, Scoliosis, Ptosis ORPHA:1454
Hunter-Macdonald Syndrome
Short stature, Upslanted palpebral fissure, Scoliosis, Camptodactyly, Blepharophimosis, Joint con... OMIM:611962
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... ORPHA:1724
Atelis Syndrome 2
Epicanthus, Sacral dimple, Kyphosis, Dysmetria, Dacryocystocele, Short palpebral fissure OMIM:620185
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Finger joint contracture OMIM:212112
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Broad eyebrow, Highly arched eyebrow OMIM:619244
Coach Syndrome 1
Growth delay, Ataxia, Ptosis OMIM:216360
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Short stature, Lacrimal duct stenosis, Highly arched eyebrow, Short neck, Upslanted p... OMIM:617506
Holoprosencephaly
Epicanthus, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Synophrys, Abnorm... ORPHA:2162
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Short neck, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:217980
Weaver Syndrome
Epicanthus, Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand, D... OMIM:277590
Congenital Myopathy 17
Telecanthus, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Downslanted palpebral fi... OMIM:618975
Lymphedema-Distichiasis Syndrome
Ptosis, Kyphosis, Conjunctivitis, Distichiasis, Ectropion OMIM:153400
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies, Skeletal muscle atrophy OMIM:219090
Shprintzen-Goldberg Syndrome
Telecanthus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Abnor... ORPHA:2462
Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Short stature, Multiple joint contractures, Kyphoscoliosis, Flexion co... ORPHA:536471
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Waddling gait, Spinal canal stenosis, Upslanted palpebral fissure, ... OMIM:186500
Teebi-Shaltout Syndrome
Telecanthus, Short stature, Highly arched eyebrow, Camptodactyly, Caudal appendage, Ptosis OMIM:272950
Trichohepatoneurodevelopmental Syndrome
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Macroglossia, Distal arthrogry... OMIM:618268
Bickerstaff Brainstem Encephalitis
Bulbar palsy, Ataxia, Facial palsy, Ophthalmoplegia, Weakness of facial musculature, Limb muscle ... ORPHA:79138
Myhre Syndrome
Severe short stature, Skeletal muscle hypertrophy, Platyspondyly, Blepharophimosis, Intrauterine ... ORPHA:2588
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Upslanted palpebral fissure, Ptosis OMIM:619758
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis ORPHA:314655
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, Intrauterine growth retardation, Shor... OMIM:619005
Infant Botulism
Respiratory insufficiency due to muscle weakness, Keratoconjunctivitis sicca, Ptosis ORPHA:178478
Reni Syndrome
Ataxia, Ptosis OMIM:617575
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:110100
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Epicanthus, Facial hypotonia, Short neck, Synophrys, Cervical C5/C6 vertebrae fusi... OMIM:613458
Noonan Syndrome
Short stature, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Downslanted palpe... ORPHA:648
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Epicanthus, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contra... OMIM:619194
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Skeletal muscle atrophy OMIM:219080
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Kyphosis, Upslanted palpebral fissure, Scoliosis ORPHA:261250
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Scoliosis, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:300895
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Ptosis OMIM:220500
Leopard Syndrome 1
Scapular winging, Epicanthus, Short stature, Kyphoscoliosis, Short neck, Delayed puberty, Delayed... OMIM:151100
Cardiofacioneurodevelopmental Syndrome
Upslanted palpebral fissure, Kyphosis, Camptodactyly OMIM:619123
Joubert Syndrome 8
Ataxia, Ptosis OMIM:612291
Galloway-Mowat Syndrome 1
Epicanthus, Short stature, Ataxia, Camptodactyly, Intrauterine growth retardation, Joint contract... OMIM:251300
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Short stature, Muscle weakness OMIM:239000
Char Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:46627
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ptosis, Short stature, Aplasia of the right hemidiaphragm, Hooded eyelid, Highly arched eyebrow, ... OMIM:619841
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Kyphoscoliosis, Platyspondyly, Progressive congenital scoliosis, Downslanted palpebra... OMIM:225400
Giant Cell Arteritis
Ataxia, Ophthalmoparesis, Muscle weakness, Ptosis ORPHA:397
Jacobsen Syndrome
Epicanthus, Ectropion, Short stature, Short neck, Abnormal form of the vertebral bodies, Growth d... ORPHA:2308
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis ORPHA:255210
Monosomy 9Q22.3
Epicanthus, Rhabdomyosarcoma, Short neck, Kyphosis, Abnormality of the vertebral column, Downslan... ORPHA:77301
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Downslanted palpebral fissures, Short palpebral f... OMIM:616078
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Short stature, Flexion contracture, Upslanted palpebral fissure, Scolios... OMIM:309590
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Downs... OMIM:613563
Coffin-Siris Syndrome 4
Short stature, Macroglossia, Long eyelashes, Scoliosis, Intrauterine growth retardation, Thick ey... OMIM:614609
Shprintzen Omphalocele Syndrome
Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis OMIM:182210
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Kyphosis, Birth length less than 3rd percentile, Gait disturbance, Sco... ORPHA:464311
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615829
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture, Scoliosis ORPHA:398069
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Bulbar palsy, Hypomimic face, Contractures of the large joints OMIM:617527
Lathosterolosis
Abnormal thoracic spine morphology, Epicanthus, Intrauterine growth retardation, Downslanted palp... ORPHA:46059
Cohen-Gibson Syndrome
Epicanthus, Flexion contracture, Gait disturbance, Scoliosis, Camptodactyly, Downslanted palpebra... OMIM:617561
Au-Kline Syndrome
Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Vertebral segmentation defect, Shallow orb... OMIM:616580
Marshall-Smith Syndrome
Thoracic scoliosis, Short stature, Kyphoscoliosis, Highly arched eyebrow, Hypoplasia of the odont... OMIM:602535
Smith-Lemli-Opitz Syndrome
Epicanthus, Short stature, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Abnormal eyel... ORPHA:818
Cornelia De Lange Syndrome 1
Short stature, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly arched eyebro... OMIM:122470
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis, Achalasia, Ineffective esophageal peristalsis OMIM:619482
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Ptosis, Sacral dimple, Epicanthus, Hyperlordosis, Postnatal growth retardati... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Ptosis, Sacral dimple, Epicanthus, Hyperlordosis, Postnatal growth retardati... ORPHA:363958
Orthostatic Hypotension 1
Weakness of facial musculature, Ptosis OMIM:223360
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Muscle weakness, Ptosis OMIM:124000
Codas Syndrome
Short stature, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar scoliosis, Sco... OMIM:600373
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Short stature, Ataxia, Downslanted palpebral fissures, Ptosis OMIM:300661
Cockayne Syndrome
Skeletal muscle atrophy, Severe short stature, Ataxia, Postnatal growth retardation, Kyphosis, In... ORPHA:191
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis ORPHA:140
Congenital Fibrosis Of Extraocular Muscles
Nonprogressive restrictive external ophthalmoplegia, Torticollis, Levator palpebrae superioris at... ORPHA:45358
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Mild postnatal growth retardation, Kyphosis, Flexion contracture, Unstea... ORPHA:90324
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Epicanthus, Broad-based gait, Macroglossia, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:369950
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Bulbar palsy, Limb hypertonia, Contractures of the large joints ORPHA:521426
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Ptosis OMIM:146500
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Ptosis OMIM:615453
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Short stature, Short neck, Synophrys, Upslanted palpebral fissure, Blepharophimosis, ... OMIM:616734
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Postnatal growth retardation, Vertebral segmentation defect, Short ... ORPHA:959
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis ORPHA:2824
Zttk Syndrome
Epicanthus, Short stature, Sparse eyebrow, Kyphosis, Flexion contracture, Hemivertebrae, Growth d... OMIM:617140
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Bilateral ptosis, Keratoconjunctivit... ORPHA:536532
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Ataxia, Dysmetria, Knee flexion contracture OMIM:619708
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... OMIM:249420
Muenke Syndrome
Ptosis ORPHA:53271
Neurofaciodigitorenal Syndrome
Epicanthus, Short stature, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis ORPHA:2673
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Cockayne Syndrome A
Hip contracture, Short stature, Ataxia, Kyphosis, Severe postnatal growth retardation, Gait distu... OMIM:216400
Hajdu-Cheney Syndrome
Telecanthus, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys, Sc... ORPHA:955
Mend Syndrome
Sacral dimple, Telecanthus, Short stature, Kyphosis, Upslanted palpebral fissure, Limb hypertonia ORPHA:401973
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Sparse eyelashes, Short stature, Sparse eyebrow, Ptosis OMIM:129400
Waardenburg Syndrome
Abnormal eyebrow morphology, Synophrys, Telecanthus, Ptosis ORPHA:3440
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Short stature, Kyphosis, Gait disturbance, Scoliosis, Intrauterine g... ORPHA:464306
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Ataxia, Ptosis OMIM:615510
Alstrom Syndrome
Kyphosis, Short stature, Scoliosis OMIM:203800
Acrofrontofacionasal Dysostosis 1
Short stature, Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis OMIM:201180
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Kyphoscoliosis, Kyphosis, Upslanted palpebral fissure, Left ventricular noncompaction, Sc... OMIM:300967
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Arboleda-Tham Syndrome
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper limb amyotrophy, Upper eyelid ed... OMIM:616268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Broad eyebrow, Torticollis, Broad-based gait, Palpebral edema, Ataxia, Kyphosis, Synop... OMIM:619475
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress... OMIM:610915
Gaucher Disease Type 1
Growth delay, Kyphosis, Vertebral compression fracture, Delayed puberty ORPHA:77259
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... OMIM:259770
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Short stature, Epicanthus, Highly arched ... OMIM:194190
Coffin-Siris Syndrome
Postnatal growth retardation, Prominent eyelashes, Growth delay, Scoliosis, Intrauterine growth r... ORPHA:1465
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Rett Syndrome, Congenital Variant
Kyphosis, Athetosis, Scoliosis OMIM:613454
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Waddling gait, Telecanthus, Facial hypotonia, Lacrimal duct stenosi... ORPHA:506358
Neuroocular Syndrome
Scapular winging, Sacral dimple, Short stature, Highly arched eyebrow, Lagophthalmos, Synophrys, ... OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Pectoral muscle hypoplasia... ORPHA:306542
Mgat2-Cdg
Downslanted palpebral fissures, Kyphosis, Long eyelashes, Scoliosis ORPHA:79329
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Ptosis OMIM:309520
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Ptosis OMIM:605627
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis OMIM:604314
Kabuki Syndrome 1
Short stature, Highly arched eyebrow, Postnatal growth retardation, Sparse eyebrow, Bilateral pto... OMIM:147920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ptosis, Telecanthus, Epicanthus, Broad-based gait, Highly arched eyebrow, Gait ataxia, Camptodact... OMIM:280000
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Fl... OMIM:180849
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short stature, Highly arched eyebrow, Short neck, Intrauterine growth retardation, Ptosis ORPHA:2282
Opitz Gbbb Syndrome
Telecanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation defect, Downs... ORPHA:2745
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Short stature, Eyelid coloboma, Scoliosis, Difficulty walk... ORPHA:51
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Thick eyebrow, Flexion contracture, Upslanted palpebral fissure, Long ey... OMIM:618332
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Short stature, Disproportionate short-trunk short stature ORPHA:1855
Vici Syndrome
Epicanthus, Postnatal growth retardation, Myopathy, Left ventricular hypertrophy, Ptosis OMIM:242840
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Epicanthus, Short stature, Short neck, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:607721
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Upslanted palpebral fiss... OMIM:157800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Ophthalmoplegia, Limb ataxia, Growth delay, Scoliosis, Delayed puberty, Thoraco... ORPHA:2072
17Q24.2 Microdeletion Syndrome
Short neck, Synophrys, Scoliosis, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:529962
Prolidase Deficiency
Ptosis OMIM:170100
Lathosterolosis
Epicanthus, Lumbosacral meningocele, Growth delay, Downslanted palpebral fissures, Butterfly vert... OMIM:607330
Congenital Disorder Of Deglycosylation 1
Facial hypotonia, Dysmetria, Intrinsic hand muscle atrophy, Athetosis, Scoliosis, Ptosis OMIM:615273
Osteogenesis Imperfecta
Short stature, Cervical kyphosis, Rhizomelia, Ataxia, Kyphosis, Flexion contracture, Vertebral co... ORPHA:666
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Severe short stature, Abnormal nasolacrimal system morphology, Camptodactyly of f... ORPHA:2273
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Coffin-Siris Syndrome 1
Sacral dimple, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyph... OMIM:135900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Highly arched eyebrow, Synophrys, Macroglossia, Long eyelashes, Downslanted palpeb... ORPHA:444077
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Charge Syndrome
Epicanthus, Short stature, Facial palsy, Highly arched eyebrow, Postnatal growth retardation, Hem... ORPHA:138
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... ORPHA:141099
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Hyperlordosis, Synophrys, Downslanted palpebral fissures, Ptosis OMIM:301066
Singleton-Merten Syndrome 1
Waddling gait, Short stature, Scoliosis, Muscle fiber atrophy, Tendon rupture, Muscle weakness, P... OMIM:182250
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Acromelic Frontonasal Dysplasia
Telecanthus, Ptosis ORPHA:1827
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Short stature, Ataxia, Kyphosis, Upslanted palpebral fissure, Ga... ORPHA:268261
Prolactinoma
Oculomotor nerve palsy, Ptosis, Internal ophthalmoplegia, Delayed puberty ORPHA:2965
Stickler Syndrome
Skeletal muscle atrophy, Epicanthus, Telecanthus, Short stature, Kyphosis, Spinal canal stenosis,... ORPHA:828
Cowden Syndrome
Short stature, Ataxia, Kyphosis, Macroglossia, Scoliosis, Conjunctival hamartoma ORPHA:201
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Sacral dimple, Downslanted palpebral fissures, Eyelid coloboma ORPHA:2211
Mesomelia-Synostoses Syndrome
Telecanthus, Mesomelic short stature, Downslanted palpebral fissures, Abnormal vertebral morpholo... OMIM:600383
Malignant Atrophic Papulosis
Muscle flaccidity, Ptosis ORPHA:679
Cockayne Syndrome B
Severe short stature, Ataxia, Postnatal growth retardation, Kyphosis, Intrauterine growth retarda... OMIM:133540
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Abnormal nasolacrimal system morphology, Facial palsy, Kyphosis, Scoliosis ORPHA:2658
Mend Syndrome
Sacral dimple, Short stature, Kyphosis, Upslanted palpebral fissure, Narrow palpebral fissure OMIM:300960
Ayme-Gripp Syndrome
Short stature, Upslanted palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Broad ... OMIM:601088
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:1555
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Short stature, Camptodactyly of finger, Kyphosis, Spinal... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Epicanthus, Joint contracture of the 5th finger, Ptosis OMIM:619934
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Delayed puberty OMIM:619718
Non-Functioning Pituitary Adenoma
Oculomotor nerve palsy, Internal ophthalmoplegia, Ptosis ORPHA:91349
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Monosomy 13Q14
Epicanthus, Short stature, Short neck, Intrauterine growth retardation, Ptosis ORPHA:1587
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Aplasia of the pectoral... ORPHA:2911
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fis... OMIM:618820
Wagro Syndrome
Downslanted palpebral fissures, Ptosis OMIM:612469
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Fanconi Anemia
Epicanthus, Short stature, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Growth de... ORPHA:84
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Abnormal eyelid morpho... ORPHA:2526
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Epicanthus, Short neck, Antecubital pterygium, Knee flexion contracture, Popliteal p... OMIM:609945
Good Syndrome
Fatigable weakness, Ptosis ORPHA:169105
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Epicanthus, Short stature, Ataxia, Kyphosis, Synophrys,... OMIM:259050
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Ptosis, Camptodactyly ORPHA:228426
Wrinkly Skin Syndrome
Scapular winging, Epicanthus, Short stature, Hypoplasia of the musculature, Kyphosis, Scoliosis, ... OMIM:278250
Cornelia De Lange Syndrome
Short stature, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly arched eyebro... ORPHA:199
Faciocardiomelic Syndrome
Telecanthus, Cuboid-shaped vertebral bodies, Short eyelashes, Ptosis OMIM:612731
Coffin-Lowry Syndrome
Telecanthus, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Scoliosis, Downslan... OMIM:303600
Pachydermoperiostosis
Scoliosis, Ptosis ORPHA:2796
Branchiooculofacial Syndrome
Telecanthus, Facial palsy, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck, Elb... OMIM:113620
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
22Q11.2 Deletion Syndrome
Telecanthus, Epicanthus, Short stature, Short neck, Abnormal eyelid morphology, Upslanted palpebr... ORPHA:567
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... OMIM:154500
Noonan Syndrome 1
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Downslanted ... OMIM:163950
Neurofibromatosis Type 1
Short stature, Ataxia, Abnormal eyelid morphology, Kyphosis, Lisch nodules, Scoliosis, Delayed pu... ORPHA:636
Diamond-Blackfan Anemia
Epicanthus, Short stature, Short neck, Growth delay, Abnormality of the thenar eminence, Ptosis ORPHA:124
14Q22Q23 Microdeletion Syndrome
Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis ORPHA:264200
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Intrauterine growth retardation, Epicanthus, Ptosis OMIM:618164
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Kyphosis, Absent eyebrow ORPHA:85199
Aspartylglucosaminuria
Short stature, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... OMIM:208400
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... ORPHA:2363
Noonan Syndrome 3
Downslanted palpebral fissures, Epicanthus, Short stature, Ptosis OMIM:609942
Cleidocranial Dysplasia 1
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Holoprosencephaly 4
Ptosis OMIM:142946
Beare-Stevenson Cutis Gyrata Syndrome
Downslanted palpebral fissures, Ptosis OMIM:123790
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Pearson Syndrome
Ataxia, Postnatal growth retardation, Ophthalmoplegia, Growth delay, Ptosis ORPHA:699
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Short stature, Ptosis OMIM:620303
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Epicanthus, Short stature, Short neck, Intrauterine growth retardation, Short palp... OMIM:617157
Acromelic Frontonasal Dysostosis
Telecanthus, Downslanted palpebral fissures, Ptosis OMIM:603671
Erdheim-Chester Disease
Xanthelasma, Ataxia, Ptosis ORPHA:35687
Microphthalmia, Syndromic 2
Short stature, Flexion contracture, Laterally curved eyebrow, Scoliosis, Blepharophimosis, Contra... OMIM:300166
Costello Syndrome
Epicanthus, Short stature, Rhabdomyosarcoma, Short neck, Achilles tendon contracture, Macroglossi... OMIM:218040
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Abnormal curvature of the vertebral column, Scoliosis, Intrauterine... ORPHA:90348
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... ORPHA:99413
Mosaic Monosomy X
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... ORPHA:99228
Monosomy X
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... ORPHA:99226
Turner Syndrome
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Neck pterygia, Gro... ORPHA:881
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Platyspondyly, Sc... OMIM:309000
Marfan Syndrome
Skeletal muscle atrophy, Kyphosis, Scoliosis, Downslanted palpebral fissures, Spondylolisthesis ORPHA:558
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Short stature, Shoulder muscle hypoplasia, Ptosis OMIM:274000
Peters-Plus Syndrome
Rhizomelia, Diastasis recti, Short neck, Postnatal growth retardation, Hemivertebrae, Birth lengt... OMIM:261540
Trichorhinophalangeal Syndrome, Type Ii
Ptosis, Scapular winging, Mild postnatal growth retardation, Thoracolumbar scoliosis, Growth dela... OMIM:150230
Monosomy 22Q13.3
Epicanthus, Sacral dimple, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis ORPHA:48652
Primary Hepatic Neuroendocrine Carcinoma
Ptosis ORPHA:100085
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis ORPHA:3217
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Choreoacanthocytosis
Distal muscle weakness, Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Muscle fiber atrophy ORPHA:2388
Cerebrocostomandibular Syndrome
Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Degcags Syndrome
Abnormal eyebrow morphology, Sacral dimple, Diaphragmatic eventration, Abnormal eyelash morpholog... OMIM:619488
Williams Syndrome
Sacral dimple, Epicanthus, Short stature, Ataxia, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:904
Arima Syndrome
Growth delay, Ataxia, Ptosis OMIM:243910
Oculocerebrorenal Syndrome Of Lowe
Short stature, Kyphosis, Upslanted palpebral fissure, Platyspondyly, Scoliosis, Delayed puberty ORPHA:534
Ramon Syndrome
Kyphosis, Short stature, Scoliosis OMIM:266270
Pituitary Apoplexy
Ptosis ORPHA:95613
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... OMIM:300106
17Q11 Microdeletion Syndrome
Short stature, Rhabdomyosarcoma, Kyphosis, Lisch nodules, Abnormality of the vertebral column, Be... ORPHA:97685
Meckel Syndrome, Type 1
Camptodactyly of finger, Short neck, Intrauterine growth retardation, Epicanthus inversus, Ptosis OMIM:249000
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Short stature, Kyphoscoliosis, Short neck, Upslanted palpebral fissure, Macroglossia,... OMIM:309580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Nasolacrimal duct... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Short stature, Highly arched eyebrow, Trichiasis, Postnatal growth retardation, Nasolacrimal duct... ORPHA:353277
Classic Homocystinuria
Kyphosis, Scoliosis ORPHA:394
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Downslanted palpebral fissures, Scoliosis ORPHA:198
Proteus Syndrome
Decreased muscle mass, Retinal hamartoma, Kyphosis, Abnormal form of the vertebral bodies, Scolio... ORPHA:744
Acromegaly
Palpebral edema, Kyphosis, Synophrys, Spinal canal stenosis, Macroglossia ORPHA:963
Somatomammotropinoma
Palpebral edema, Kyphosis, Synophrys, Spinal canal stenosis, Macroglossia ORPHA:314769
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Ptosis ORPHA:3474
Okamoto Syndrome
Long palpebral fissure, Severe postnatal growth retardation, Scoliosis, Ptosis ORPHA:2729
Tsh-Secreting Pituitary Adenoma
Oculomotor nerve palsy, Ptosis, Internal ophthalmoplegia, Delayed puberty ORPHA:91347
Smith-Lemli-Opitz Syndrome
Sacral dimple, Epicanthus, Short stature, Growth delay, Intrauterine growth retardation, Ptosis OMIM:270400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Short stature, Absent eyelashes, Growth delay, Scoliosis, Neonatal death, Butterf... OMIM:308205
Joubert Syndrome 5
Ataxia, Ptosis OMIM:610188
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Aplasia/Hypoplasia of the abdominal wall musculature, Keratoconjunctivitis sicca, Sco... ORPHA:285
Occipital Horn Syndrome
Growth delay, Kyphosis, Platyspondyly OMIM:304150
Joubert Syndrome 21
Ataxia, Ptosis OMIM:615636
Pallister-Killian Syndrome
Sacral dimple, Telecanthus, Rhizomelia, Sparse eyelashes, Kyphoscoliosis, Mesomelic/rhizomelic li... OMIM:601803
Zygomycosis
External ophthalmoplegia, Chemosis, Ptosis ORPHA:73263
Aniridia 1
Bilateral ptosis, Ptosis OMIM:106210
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Difficulty walking, Ptosis OMIM:618748
Specc1L-Related Hypertelorism Syndrome
Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis ORPHA:1519
Charge Syndrome
Facial palsy, Postnatal growth retardation, Hemivertebrae, Scoliosis, Delayed puberty, Downslante... OMIM:214800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis OMIM:146255
Viss Syndrome
Ptosis, Ectropion, Short stature, Kyphosis, Macroglossia, Scoliosis, Long palpebral fissure, Cont... OMIM:619472
Pallister-Hall Syndrome
Short stature, Hemivertebrae, Distal arthrogryposis, Intrauterine growth retardation, Downslanted... ORPHA:672
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Hypoplasia of facial musculature, Blepharophimosis, Hemivertebrae, Upper... OMIM:164210
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Ptosis, Short stature, Shallow orbits OMIM:101400
Mowat-Wilson Syndrome
Short stature, Generalized muscle hypertrophy, Downslanted palpebral fissures, Broad eyebrow, Ptosis OMIM:235730
Kawasaki Disease
Conjunctivitis, Ptosis ORPHA:2331
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Broad-based gait, Short stature, Inability to walk, Flexion contracture, Scoliosis, ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Telecanthus, Epicanthus, Short stature, Broad-based gait, Highly arched eyebrow, Inability to wal... ORPHA:261552
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Ptosis OMIM:614231
Phace Syndrome
Abnormality of the orbital region, Ptosis ORPHA:42775
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Kyphosis, Bilateral camptoda... ORPHA:821
Vascular Ehlers-Danlos Syndrome
Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Abnormal eyelash morphology, A... ORPHA:286
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Growth delay, Scoliosis, Camptodactyly, Joint contracture o... OMIM:309800
Yunis-Varon Syndrome
Epicanthus, Sparse eyelashes, Anterior concavity of thoracic vertebrae, Sparse eyebrow, Kyphosis,... OMIM:216340
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Ptosis OMIM:161700
Alström Syndrome
Thoracic scoliosis, Short stature, Ataxia, Kyphosis, Lumbar scoliosis, Delayed menarche ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Neb

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Neb.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nebltm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Nebltm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nebltm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nebltm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nebltm1b(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nebtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nebtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nebtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nebtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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